ClinVar Miner

List of variants studied for Neurofibromatosis, type 1 by Swedish Neurofibromatosis Center, Swedish Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1720A>C (p.Ser574Arg) rs2066929440
NM_001042492.3(NF1):c.5548G>T (p.Val1850Phe) rs1597832397
NM_001042492.3(NF1):c.5837del (p.Leu1946fs) rs2069601882

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